ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.3698C>T (p.Thr1233Ile) (rs1555179638)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658371 SCV000780143 uncertain significance not provided 2018-05-24 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ABCC9 gene. The T1233I variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). The T1233I variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

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